PED1A_HUMAN
ID PED1A_HUMAN Reviewed; 454 AA.
AC Q9H1Q7; Q5JUA5; Q5JUA6; Q6PK19; Q86WF5; Q96CG7; Q9H1Q6; Q9H6D1;
DT 08-NOV-2002, integrated into UniProtKB/Swiss-Prot.
DT 01-MAR-2001, sequence version 1.
DT 03-AUG-2022, entry version 157.
DE RecName: Full=PC-esterase domain-containing protein 1A;
DE AltName: Full=Protein FAM113A;
DE AltName: Full=Sarcoma antigen NY-SAR-23;
GN Name=PCED1A; Synonyms=C20orf81, FAM113A;
OS Homo sapiens (Human).
OC Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia;
OC Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae;
OC Homo.
OX NCBI_TaxID=9606;
RN [1]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORMS 1 AND 2).
RX PubMed=14702039; DOI=10.1038/ng1285;
RA Ota T., Suzuki Y., Nishikawa T., Otsuki T., Sugiyama T., Irie R.,
RA Wakamatsu A., Hayashi K., Sato H., Nagai K., Kimura K., Makita H.,
RA Sekine M., Obayashi M., Nishi T., Shibahara T., Tanaka T., Ishii S.,
RA Yamamoto J., Saito K., Kawai Y., Isono Y., Nakamura Y., Nagahari K.,
RA Murakami K., Yasuda T., Iwayanagi T., Wagatsuma M., Shiratori A., Sudo H.,
RA Hosoiri T., Kaku Y., Kodaira H., Kondo H., Sugawara M., Takahashi M.,
RA Kanda K., Yokoi T., Furuya T., Kikkawa E., Omura Y., Abe K., Kamihara K.,
RA Katsuta N., Sato K., Tanikawa M., Yamazaki M., Ninomiya K., Ishibashi T.,
RA Yamashita H., Murakawa K., Fujimori K., Tanai H., Kimata M., Watanabe M.,
RA Hiraoka S., Chiba Y., Ishida S., Ono Y., Takiguchi S., Watanabe S.,
RA Yosida M., Hotuta T., Kusano J., Kanehori K., Takahashi-Fujii A., Hara H.,
RA Tanase T.-O., Nomura Y., Togiya S., Komai F., Hara R., Takeuchi K.,
RA Arita M., Imose N., Musashino K., Yuuki H., Oshima A., Sasaki N.,
RA Aotsuka S., Yoshikawa Y., Matsunawa H., Ichihara T., Shiohata N., Sano S.,
RA Moriya S., Momiyama H., Satoh N., Takami S., Terashima Y., Suzuki O.,
RA Nakagawa S., Senoh A., Mizoguchi H., Goto Y., Shimizu F., Wakebe H.,
RA Hishigaki H., Watanabe T., Sugiyama A., Takemoto M., Kawakami B.,
RA Yamazaki M., Watanabe K., Kumagai A., Itakura S., Fukuzumi Y., Fujimori Y.,
RA Komiyama M., Tashiro H., Tanigami A., Fujiwara T., Ono T., Yamada K.,
RA Fujii Y., Ozaki K., Hirao M., Ohmori Y., Kawabata A., Hikiji T.,
RA Kobatake N., Inagaki H., Ikema Y., Okamoto S., Okitani R., Kawakami T.,
RA Noguchi S., Itoh T., Shigeta K., Senba T., Matsumura K., Nakajima Y.,
RA Mizuno T., Morinaga M., Sasaki M., Togashi T., Oyama M., Hata H.,
RA Watanabe M., Komatsu T., Mizushima-Sugano J., Satoh T., Shirai Y.,
RA Takahashi Y., Nakagawa K., Okumura K., Nagase T., Nomura N., Kikuchi H.,
RA Masuho Y., Yamashita R., Nakai K., Yada T., Nakamura Y., Ohara O.,
RA Isogai T., Sugano S.;
RT "Complete sequencing and characterization of 21,243 full-length human
RT cDNAs.";
RL Nat. Genet. 36:40-45(2004).
RN [2]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
RX PubMed=11780052; DOI=10.1038/414865a;
RA Deloukas P., Matthews L.H., Ashurst J.L., Burton J., Gilbert J.G.R.,
RA Jones M., Stavrides G., Almeida J.P., Babbage A.K., Bagguley C.L.,
RA Bailey J., Barlow K.F., Bates K.N., Beard L.M., Beare D.M., Beasley O.P.,
RA Bird C.P., Blakey S.E., Bridgeman A.M., Brown A.J., Buck D., Burrill W.D.,
RA Butler A.P., Carder C., Carter N.P., Chapman J.C., Clamp M., Clark G.,
RA Clark L.N., Clark S.Y., Clee C.M., Clegg S., Cobley V.E., Collier R.E.,
RA Connor R.E., Corby N.R., Coulson A., Coville G.J., Deadman R., Dhami P.D.,
RA Dunn M., Ellington A.G., Frankland J.A., Fraser A., French L., Garner P.,
RA Grafham D.V., Griffiths C., Griffiths M.N.D., Gwilliam R., Hall R.E.,
RA Hammond S., Harley J.L., Heath P.D., Ho S., Holden J.L., Howden P.J.,
RA Huckle E., Hunt A.R., Hunt S.E., Jekosch K., Johnson C.M., Johnson D.,
RA Kay M.P., Kimberley A.M., King A., Knights A., Laird G.K., Lawlor S.,
RA Lehvaeslaiho M.H., Leversha M.A., Lloyd C., Lloyd D.M., Lovell J.D.,
RA Marsh V.L., Martin S.L., McConnachie L.J., McLay K., McMurray A.A.,
RA Milne S.A., Mistry D., Moore M.J.F., Mullikin J.C., Nickerson T.,
RA Oliver K., Parker A., Patel R., Pearce T.A.V., Peck A.I.,
RA Phillimore B.J.C.T., Prathalingam S.R., Plumb R.W., Ramsay H., Rice C.M.,
RA Ross M.T., Scott C.E., Sehra H.K., Shownkeen R., Sims S., Skuce C.D.,
RA Smith M.L., Soderlund C., Steward C.A., Sulston J.E., Swann R.M.,
RA Sycamore N., Taylor R., Tee L., Thomas D.W., Thorpe A., Tracey A.,
RA Tromans A.C., Vaudin M., Wall M., Wallis J.M., Whitehead S.L.,
RA Whittaker P., Willey D.L., Williams L., Williams S.A., Wilming L.,
RA Wray P.W., Hubbard T., Durbin R.M., Bentley D.R., Beck S., Rogers J.;
RT "The DNA sequence and comparative analysis of human chromosome 20.";
RL Nature 414:865-871(2001).
RN [3]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORMS 1; 3 AND 4).
RC TISSUE=Blood, Brain, and Skin;
RX PubMed=15489334; DOI=10.1101/gr.2596504;
RG The MGC Project Team;
RT "The status, quality, and expansion of the NIH full-length cDNA project:
RT the Mammalian Gene Collection (MGC).";
RL Genome Res. 14:2121-2127(2004).
RN [4]
RP NUCLEOTIDE SEQUENCE [MRNA] OF 58-301 (ISOFORM 1).
RC TISSUE=Testis;
RX PubMed=12601173; DOI=10.1073/pnas.0437972100;
RA Lee S.-Y., Obata Y., Yoshida M., Stockert E., Williamson B.,
RA Jungbluth A.A., Chen Y.-T., Old L.J., Scanlan M.J.;
RT "Immunomic analysis of human sarcoma.";
RL Proc. Natl. Acad. Sci. U.S.A. 100:2651-2656(2003).
CC -!- INTERACTION:
CC Q9H1Q7; P60409: KRTAP10-7; NbExp=3; IntAct=EBI-748452, EBI-10172290;
CC Q9H1Q7; P60410: KRTAP10-8; NbExp=3; IntAct=EBI-748452, EBI-10171774;
CC Q9H1Q7; Q7Z3S9: NOTCH2NLA; NbExp=3; IntAct=EBI-748452, EBI-945833;
CC -!- ALTERNATIVE PRODUCTS:
CC Event=Alternative splicing; Named isoforms=4;
CC Name=1;
CC IsoId=Q9H1Q7-1; Sequence=Displayed;
CC Name=2;
CC IsoId=Q9H1Q7-2; Sequence=VSP_003818;
CC Name=3;
CC IsoId=Q9H1Q7-3; Sequence=VSP_003818, VSP_003819;
CC Name=4;
CC IsoId=Q9H1Q7-4; Sequence=VSP_013917, VSP_013918;
CC -!- SIMILARITY: Belongs to the PC-esterase family. {ECO:0000305}.
CC -!- SEQUENCE CAUTION:
CC Sequence=AAO65166.1; Type=Miscellaneous discrepancy; Note=Contaminating sequence. Sequence of unknown origin in the C-terminal part.; Evidence={ECO:0000305};
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DR EMBL; AK056353; BAB71160.1; -; mRNA.
DR EMBL; AK026029; BAB15328.1; -; mRNA.
DR EMBL; AL161656; -; NOT_ANNOTATED_CDS; Genomic_DNA.
DR EMBL; BC008864; AAH08864.1; -; mRNA.
DR EMBL; BC014247; AAH14247.1; -; mRNA.
DR EMBL; BC037240; AAH37240.2; -; mRNA.
DR EMBL; BC051816; AAH51816.1; -; mRNA.
DR EMBL; AY211913; AAO65166.1; ALT_SEQ; mRNA.
DR CCDS; CCDS13035.1; -. [Q9H1Q7-1]
DR CCDS; CCDS59442.1; -. [Q9H1Q7-2]
DR RefSeq; NP_001258097.1; NM_001271168.1. [Q9H1Q7-2]
DR RefSeq; NP_073597.2; NM_022760.4. [Q9H1Q7-1]
DR RefSeq; XP_005260861.1; XM_005260804.2. [Q9H1Q7-1]
DR RefSeq; XP_005260862.1; XM_005260805.2. [Q9H1Q7-2]
DR AlphaFoldDB; Q9H1Q7; -.
DR BioGRID; 122284; 19.
DR IntAct; Q9H1Q7; 7.
DR MINT; Q9H1Q7; -.
DR STRING; 9606.ENSP00000353868; -.
DR iPTMnet; Q9H1Q7; -.
DR PhosphoSitePlus; Q9H1Q7; -.
DR BioMuta; PCED1A; -.
DR DMDM; 25008325; -.
DR MassIVE; Q9H1Q7; -.
DR PaxDb; Q9H1Q7; -.
DR PeptideAtlas; Q9H1Q7; -.
DR PRIDE; Q9H1Q7; -.
DR ProteomicsDB; 80437; -. [Q9H1Q7-1]
DR ProteomicsDB; 80438; -. [Q9H1Q7-2]
DR ProteomicsDB; 80439; -. [Q9H1Q7-3]
DR ProteomicsDB; 80440; -. [Q9H1Q7-4]
DR Antibodypedia; 23331; 102 antibodies from 17 providers.
DR DNASU; 64773; -.
DR Ensembl; ENST00000356872.7; ENSP00000349334.3; ENSG00000132635.17. [Q9H1Q7-2]
DR Ensembl; ENST00000360652.7; ENSP00000353868.2; ENSG00000132635.17. [Q9H1Q7-1]
DR GeneID; 64773; -.
DR KEGG; hsa:64773; -.
DR MANE-Select; ENST00000360652.7; ENSP00000353868.2; NM_022760.6; NP_073597.2.
DR UCSC; uc002wgz.3; human. [Q9H1Q7-1]
DR CTD; 64773; -.
DR GeneCards; PCED1A; -.
DR HGNC; HGNC:16212; PCED1A.
DR HPA; ENSG00000132635; Low tissue specificity.
DR neXtProt; NX_Q9H1Q7; -.
DR OpenTargets; ENSG00000132635; -.
DR PharmGKB; PA25790; -.
DR VEuPathDB; HostDB:ENSG00000132635; -.
DR eggNOG; ENOG502QVBZ; Eukaryota.
DR GeneTree; ENSGT00390000002231; -.
DR HOGENOM; CLU_053865_0_0_1; -.
DR InParanoid; Q9H1Q7; -.
DR OMA; LAGDHYF; -.
DR OrthoDB; 1041357at2759; -.
DR PhylomeDB; Q9H1Q7; -.
DR TreeFam; TF328972; -.
DR PathwayCommons; Q9H1Q7; -.
DR SignaLink; Q9H1Q7; -.
DR BioGRID-ORCS; 64773; 15 hits in 1080 CRISPR screens.
DR ChiTaRS; PCED1A; human.
DR GenomeRNAi; 64773; -.
DR Pharos; Q9H1Q7; Tdark.
DR PRO; PR:Q9H1Q7; -.
DR Proteomes; UP000005640; Chromosome 20.
DR RNAct; Q9H1Q7; protein.
DR Bgee; ENSG00000132635; Expressed in right uterine tube and 167 other tissues.
DR ExpressionAtlas; Q9H1Q7; baseline and differential.
DR Genevisible; Q9H1Q7; HS.
DR GO; GO:0016740; F:transferase activity; IEA:InterPro.
DR InterPro; IPR026057; PC-Esterase.
DR Pfam; PF13839; PC-Esterase; 1.
PE 1: Evidence at protein level;
KW Alternative splicing; Reference proteome.
FT CHAIN 1..454
FT /note="PC-esterase domain-containing protein 1A"
FT /id="PRO_0000079446"
FT VAR_SEQ 69..119
FT /note="Missing (in isoform 2 and isoform 3)"
FT /evidence="ECO:0000303|PubMed:14702039,
FT ECO:0000303|PubMed:15489334"
FT /id="VSP_003818"
FT VAR_SEQ 133..152
FT /note="APDLVIINSCLWDLSRYGRC -> SHPMNSSTIIQWRTSRCHPT (in
FT isoform 4)"
FT /evidence="ECO:0000303|PubMed:15489334"
FT /id="VSP_013917"
FT VAR_SEQ 153..454
FT /note="Missing (in isoform 4)"
FT /evidence="ECO:0000303|PubMed:15489334"
FT /id="VSP_013918"
FT VAR_SEQ 264..354
FT /note="Missing (in isoform 3)"
FT /evidence="ECO:0000303|PubMed:15489334"
FT /id="VSP_003819"
FT VARIANT 22
FT /note="Q -> H (in dbSNP:rs2274670)"
FT /id="VAR_021945"
FT CONFLICT 253
FT /note="A -> V (in Ref. 3; AAH14247)"
FT /evidence="ECO:0000305"
FT CONFLICT 430
FT /note="R -> K (in Ref. 1; BAB15328)"
FT /evidence="ECO:0000305"
SQ SEQUENCE 454 AA; 51782 MW; 6D783D66E3FD779A CRC64;
MVFCLSSEEP RRPLRSDMVH FQASEVQQLL HNKFVVILGD SIQRAVYKDL VLLLQKDSLL
TAAQLKAKGE LSFEQDQLVA GGQLGELHNG TQYREVRQFC SGSGHHLVRF YFLTRVYSEY
LEDVLEELTY GPAPDLVIIN SCLWDLSRYG RCSMESYREN LERVFVRMDQ VLPDSCLLVW
NMAMPLGERI TGGFLLPELQ PLAGSLRRDV VEGNFYSATL AGDHCFDVLD LHFHFRHAVQ
HRHRDGVHWD QHAHRHLSHL LLTHVADAWG VELPKRGYPP DPWIEDWAEM NHPFQGSHRQ
TPDFGEHLAL LPPPPSSLPP PMPFPYPLPQ PSPPPLFPPL PQDTPFFPGQ PFPPHEFFNY
NPVEDFSMPP HLGCGPGVNF VPGPLPPPIP GPNPHGQHWG PVVHRGMPRY VPNSPYHVRR
MGGPCRQRLR HSERLIHTYK LDRRPPAHSG TWPG